A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2942n54



Internal ID20136366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124540407..124541865hg38UCSC Ensembl
chr12:125024953..125026411hg19UCSC Ensembl
chr12:123590906..123592364hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381459
hg191459
hg181459
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560571, nsv560578, nsv560572, nsv560561, nsv560570, nsv560563, nsv560583, nsv560580
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2942n54
Frequency
Sample Size17421
Observed Gain98
Observed Loss31
Observed Complex0
Frequencyn/a


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